Variant: rs104894057

present in Gene: TWIST1 present in Chromosome: 7 Position on Chromosome: 19116966 Alleles of this Variant: T/G

rs104894057 in TWIST1 gene and Saethre-Chotzen Syndrome PMID 11754069 2001 Another TWIST on Baller-Gerold syndrome.

PMID 8988167 1997 Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

PMID 8988166 1997 Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.